PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000305046	[[100226120, 100229021], [100231921, 100232060], [100232677, 100232813], [100234977, 100235238], [100237054, 100237274], [100237371, 100237459], [100239202, 100239341], [100239941, 100240043], [100242470, 100242556]]	[[100228996, 100229021], [100231921, 100232060], [100232677, 100232813], [100234977, 100235238], [100237054, 100237274], [100237371, 100237459], [100239202, 100239341], [100239941, 100240043], [100242470, 100242488]]
ENST00000394887	[[100226133, 100229021], [100231921, 100232060], [100232677, 100232813], [100234977, 100235238], [100237054, 100237274], [100237371, 100237459], [100239202, 100239341], [100239941, 100240043], [100242470, 100242556]]	[[100228996, 100229021], [100231921, 100232060], [100232677, 100232813], [100234977, 100235238], [100237054, 100237274], [100237371, 100237459], [100239202, 100239341]]
ENST00000515694	[[100228399, 100229021], [100231921, 100232060], [100232677, 100232813], [100234977, 100235238], [100237054, 100237274], [100237371, 100237459], [100239202, 100239341], [100239941, 100242071], [100242470, 100242555]]	None
ENST00000506651	[[100228649, 100229021], [100231921, 100232060], [100232677, 100232813], [100234977, 100235238], [100237054, 100237274], [100237371, 100237459], [100239202, 100239341], [100239941, 100240043], [100241949, 100242071], [100242470, 100242558]]	[[100242047, 100242071], [100242470, 100242488]]
ENST00000504498	[[100238821, 100239341], [100239941, 100240043], [100242470, 100242542]]	None
NM_001286650	[[100227543, 100229021], [100231921, 100232060], [100232677, 100232813], [100234977, 100235238], [100237054, 100237274], [100237371, 100237459], [100239202, 100239341], [100239941, 100240043], [100241949, 100242071], [100242470, 100242599]]	[[100228996, 100229021], [100231921, 100232060], [100232677, 100232813], [100234977, 100235238], [100237054, 100237274], [100237371, 100237459], [100239202, 100239341]]
NM_000668	[[100227543, 100229021], [100231921, 100232060], [100232677, 100232813], [100234977, 100235238], [100237054, 100237274], [100237371, 100237459], [100239202, 100239341], [100239941, 100240043], [100242470, 100242599]]	[[100228996, 100229021], [100231921, 100232060], [100232677, 100232813], [100234977, 100235238], [100237054, 100237274], [100237371, 100237459], [100239202, 100239341], [100239941, 100240043], [100242470, 100242488]]

Promoter

Chrom	Start	End	Description
chr4	100242534	100242546	CAGE_peak_2_at_ADH1B_5end
chr4	100242549	100242564	CAGE_peak_1_at_ADH1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I099610	99610674	99611400	0.38	[{'connected_gene': 'TRMT10A', 'score': 23.55}, {'connected_gene': 'MTTP', 'score': 20.76}, {'connected_gene': 'LOC285556', 'score': 11.28}, {'connected_gene': 'ADH1B', 'score': 4.09}, {'connected_gene': 'ENSG00000248676', 'score': 0.39}]
chr4	GH04I099539	99539292	99541131	0.2	[{'connected_gene': 'MTTP', 'score': 28.91}, {'connected_gene': 'TRMT10A', 'score': 11.78}, {'connected_gene': 'C4orf17', 'score': 10.77}, {'connected_gene': 'ADH1B', 'score': 4.1}]
chr4	GH04I099571	99571429	99580447	1.58	[{'connected_gene': 'MTTP', 'score': 570.7}, {'connected_gene': 'TRMT10A', 'score': 8.18}, {'connected_gene': 'LOC100507053', 'score': 4.38}, {'connected_gene': 'ADH1B', 'score': 4.1}, {'connected_gene': 'ENSG00000248676', 'score': 0.25}]
chr4	GH04I099582	99582000	99588698	0.83	[{'connected_gene': 'MTTP', 'score': 17.47}, {'connected_gene': 'TRMT10A', 'score': 12.01}, {'connected_gene': 'LOC100507053', 'score': 4.38}, {'connected_gene': 'ADH1B', 'score': 4.1}, {'connected_gene': 'ENSG00000248676', 'score': 0.26}]
chr4	GH04I099351	99351357	99351741	0.34	[{'connected_gene': 'ADH1C', 'score': 566.77}, {'connected_gene': 'ADH1B', 'score': 560.95}, {'connected_gene': 'ADH6', 'score': 24.38}, {'connected_gene': 'ADH1A', 'score': 18.68}, {'connected_gene': 'ADH4', 'score': 16.45}, {'connected_gene': 'PIR40463', 'score': 0.28}]
chr4	GH04I099352	99352617	99353811	0.96	[{'connected_gene': 'ADH1C', 'score': 559.98}, {'connected_gene': 'ADH1B', 'score': 550.77}, {'connected_gene': 'ADH1A', 'score': 12.29}, {'connected_gene': 'ADH5', 'score': 5.73}, {'connected_gene': 'LOC102723576', 'score': 0.23}]
chr4	GH04I099322	99321391	99321450	0.93	[{'connected_gene': 'ADH1B', 'score': 550.29}, {'connected_gene': 'PIR40463', 'score': 0.44}]
chr4	GH04I099381	99381054	99381238	0.39	[{'connected_gene': 'ADH1A', 'score': 36.62}, {'connected_gene': 'ADH4', 'score': 34.81}, {'connected_gene': 'ADH1C', 'score': 27.4}, {'connected_gene': 'ADH1B', 'score': 22.22}, {'connected_gene': 'ADH6', 'score': 14.39}, {'connected_gene': 'LOC100507053', 'score': 10.46}, {'connected_gene': 'LOC102723576', 'score': 0.34}]
chr4	GH04I099321	99321642	99325813	0.88	[{'connected_gene': 'ADH1A', 'score': 22.28}, {'connected_gene': 'LOC100507053', 'score': 11.22}, {'connected_gene': 'ADH1C', 'score': 8.81}, {'connected_gene': 'ENSG00000272777', 'score': 4.65}, {'connected_gene': 'PIR40463', 'score': 0.44}, {'connected_gene': 'ADH1B', 'score': 0.31}]
chr4	GH04I099402	99402671	99406253	1.64	[{'connected_gene': 'LOC102723576', 'score': 550.77}, {'connected_gene': 'ADH4', 'score': 14.36}, {'connected_gene': 'ADH6', 'score': 11.33}, {'connected_gene': 'LOC100507053', 'score': 10.93}, {'connected_gene': 'PCNAP1', 'score': 9.94}, {'connected_gene': 'ADH5', 'score': 8.86}, {'connected_gene': 'ADH1A', 'score': 6.13}, {'connected_gene': 'ADH1B', 'score': 2.8}, {'connected_gene': 'ADH1C', 'score': 2.28}]